Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis
Author:
Affiliation:
1. Paediatric Neurology; University Hospitals Bristol; Bristol UK
2. Clinical Genetics; North Bristol NHS Trust; Bristol UK
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13064/fullpdf
Reference3 articles.
1. Congenital insensitivity to pain: an update;Nagasako;Pain,2003
2. Jekyll-Hyde neurotrophins: the story of proNGF;Ibáñez;Trends Neurosci,2002
3. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation;Rotthier;Brain,2009
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1. A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family;Frontiers in Genetics;2024-05-10
2. Structural analysis of TrkA mutations in patients with congenital insensitivity to pain reveals PLCγ as an analgesic drug target;Science Signaling;2022-04-26
3. Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis;Frontiers in Pediatrics;2021-03-04
4. Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation;European Journal of Medical Genetics;2020-01
5. Derived Polymorphic Amplified Cleaved Sequence (dPACS): A Novel PCR-RFLP Procedure for Detecting Known Single Nucleotide and Deletion–Insertion Polymorphisms;International Journal of Molecular Sciences;2019-06-29
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